TMEM151A
Involvement in disease
Episodic kinesigenic dyskinesia 3
EKD3
A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TMEM151 family.
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Cell projection
- Axon
- Cell projection
- Dendrite
Alternative names
TMEM151, TMEM151A, Transmembrane protein 151A